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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NGEF
Variant:
p.Q20H
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NGEF
NM_019850.3:p.Q20H
hg38:chr2:232974831 T>A
Frequencies & domains
Associated Papers
Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N et al.
Science (new York, N.y.),
2008
18653847 (PubMed
)
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